ReviewMolecular genetics & genomic medicine2020
Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review.
Review in Molecular genetics & genomic medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 49 papers.
What it found
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Who cites it
49 citing papers in PubMed, 83 citations in OpenAlex.
- Combining re-evaluation and new exome sequencing to identify novel genetic variants and candidate genes in Iranian families with non-syndromic hearing loss.Molecular biology reports · 2025Article
- Enhancing the diagnostic yield of monogenic diabetes in unresolved cases with early-onset hyperglycemia.Communications medicine · 2025Article
- The evolving genetic landscape of neuromuscular fetal akinesias.Journal of neuromuscular diseases · 2025Review
- HMG-CoA Synthase-2 Deficiency: Neonatal Hyperammonemic Coma and Abnormal Metabolic Screening Resembling Maple Syrup Urine Disease.JIMD reports · 2025Article
- Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases.Annals of clinical and translational neurology · 2025Article
- Whole exome sequencing enhances diagnosis of hereditary bronchiectasis.Orphanet journal of rare diseases · 2025Article
- Implementation of multi-omics in diagnosis of pediatric rare diseases.Pediatric research · 2025Review
- Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases.European journal of human genetics : EJHG · 2025Article
- Navigating Genetic Testing in Nephrology: Options and Decision-Making Strategies.Kidney international reports · 2025Review
- Ethical, legal, and policy dimensions and contentions for reanalysis and reinterpretation of clinical genetic testing results.Frontiers in genetics · 2025Article
- Framework for standardized genetic testing recommendations for chronic kidney disease in Ontario.Genetics in medicine open · 2025Article
- One-Sided Matching Portal (OSMP): A Tool to Facilitate Rare Disease Patient Matchmaking.Human mutation · 2025Article
- Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing.Scientific reports · 2024Article
- Genetics of inherited peripheral neuropathies and the next frontier: looking backwards to progress forwards.Journal of neurology, neurosurgery, and psychiatry · 2024Review
- It Is in Our DNA: Bringing Electronic Health Records and Genomic Data Together for Precision Medicine.JMIR bioinformatics and biotechnology · 2024Article
- Clinically significant changes in genes and variants associated with epilepsy over time: implications for re-analysis.Scientific reports · 2024Article
- Ethics of artificial intelligence in prenatal and pediatric genomic medicine.Journal of community genetics · 2024Article
- Bioinformatics of germline variant discovery for rare disease diagnostics: current approaches and remaining challenges.Briefings in bioinformatics · 2024Review
- Tracking updates in clinical databases increases efficiency for variant reanalysis.Genetics in medicine open · 2024Article
- Phenotype-driven reanalysis reveals five novel pathogenic variants in 40 exome-negative families with Charcot-Marie-Tooth Disease.Journal of neurology · 2024Article
Corrections and comments
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Authors and funding
20 authors at 6 institutions in 3 countries.
Funding
Abstract
backgroundOur primary aim was to evaluate the systematic reanalysis of singleton exome sequencing (ES) data for unsolved cases referred for any indication. A secondary objective was to undertake a literature review of studies examining the reanalysis of genomic data from unsolved cases.
methodsWe examined data from 58 unsolved cases referred between June 2016 and March 2017. First reanalysis at 4-13 months after the initial report considered genes newly associated with disease since the original analysis; second reanalysis at 9-18 months considered all disease-associated genes. At 25-34 months we reviewed all cases and the strategies which solved them.
resultsReanalysis of existing ES data alone at two timepoints did not yield new diagnoses. Over the same timeframe, 10 new diagnoses were obtained (17%) from additional strategies, such as microarray detection of copy number variation, repeat sequencing to improve coverage, and trio sequencing. Twenty-seven peer-reviewed articles were identified on the literature review, with a median new diagnosis rate via reanalysis of 15% and median reanalysis timeframe of 22 months.
conclusionOur findings suggest that an interval of greater than 18 months from the original report may be optimal for reanalysis. We also recommend a multi-faceted strategy for cases remaining unsolved after singleton ES.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.